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AML with RUNX1::RUNX1T1 Cooperating two Mutations Relapsed Quickly after Achieving CR. 2024

XinhongYang, and Yingwei Wu, and Xiaofeng Yang, and Xue Wu, and Yingying Chen, and Rongjuan Zhang, and Zhihua Zhang

BACKGROUND Acute myeloid leukemia (AML) with t(8;21)(q22;q22.1); RUNX1::RUNX1T1 has a relatively favorable prognosis with a high complete remission rate and long disease-free survival. RESULTS Here we describe a patient who had AML with t(8;21)(q22;q22.1); RUNX1::RUNX1T1. Cooperating mutations including KRAS and ASXL1, and with other abnormal karyotype del(17) and with a myelomonocytic differentiation. CONCLUSIONS The patient relapsed despite achieving a morphologic complete remission (CR).

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000075142 RUNX1 Translocation Partner 1 Protein A transcriptional co-repressor that contains a MYND-type zinc finger (MYND DOMAIN) at its C-terminal and functions as a homo-oligomer. It associates with DNA-binding transcription factors, other repressor proteins, and HISTONE ACETYLTRANSFERASES to repress expression of genes involved in cell growth and differentiation such as MATRIX METALLOPROTEINASE 7 and TCF12. A CHROMOSOMAL TRANSLOCATION involving the RUNX1T1 and CORE BINDING FACTOR ALPHA 2 SUBUNIT (RUNX1) genes frequently occurs in cells of leukemia patients; the resulting fusion protein (AML1-ETO or RUNX1-RUNX1T1) plays a critical role in leukemogenesis. Eight Twenty One Protein,RUNX1T1 Protein
D014178 Translocation, Genetic A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome. Chromosomal Translocation,Translocation, Chromosomal,Chromosomal Translocations,Genetic Translocation,Genetic Translocations,Translocations, Chromosomal,Translocations, Genetic
D015470 Leukemia, Myeloid, Acute Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES. Leukemia, Myelogenous, Acute,Leukemia, Nonlymphocytic, Acute,Myeloid Leukemia, Acute,Nonlymphocytic Leukemia, Acute,ANLL,Acute Myelogenous Leukemia,Acute Myeloid Leukemia,Acute Myeloid Leukemia with Maturation,Acute Myeloid Leukemia without Maturation,Leukemia, Acute Myelogenous,Leukemia, Acute Myeloid,Leukemia, Myeloblastic, Acute,Leukemia, Myelocytic, Acute,Leukemia, Myeloid, Acute, M1,Leukemia, Myeloid, Acute, M2,Leukemia, Nonlymphoblastic, Acute,Myeloblastic Leukemia, Acute,Myelocytic Leukemia, Acute,Myelogenous Leukemia, Acute,Myeloid Leukemia, Acute, M1,Myeloid Leukemia, Acute, M2,Nonlymphoblastic Leukemia, Acute,Acute Myeloblastic Leukemia,Acute Myeloblastic Leukemias,Acute Myelocytic Leukemia,Acute Myelocytic Leukemias,Acute Myelogenous Leukemias,Acute Myeloid Leukemias,Acute Nonlymphoblastic Leukemia,Acute Nonlymphoblastic Leukemias,Acute Nonlymphocytic Leukemia,Acute Nonlymphocytic Leukemias,Leukemia, Acute Myeloblastic,Leukemia, Acute Myelocytic,Leukemia, Acute Nonlymphoblastic,Leukemia, Acute Nonlymphocytic,Leukemias, Acute Myeloblastic,Leukemias, Acute Myelocytic,Leukemias, Acute Myelogenous,Leukemias, Acute Myeloid,Leukemias, Acute Nonlymphoblastic,Leukemias, Acute Nonlymphocytic,Myeloblastic Leukemias, Acute,Myelocytic Leukemias, Acute,Myelogenous Leukemias, Acute,Myeloid Leukemias, Acute,Nonlymphoblastic Leukemias, Acute,Nonlymphocytic Leukemias, Acute
D050676 Core Binding Factor Alpha 2 Subunit A transcription factor that dimerizes with the cofactor CORE BINDING FACTOR BETA SUBUNIT to form core binding factor. It contains a highly conserved DNA-binding domain known as the runt domain. Runx1 is frequently mutated in human LEUKEMIAS. AML1A Protein,AML1B Protein,AML1C Protein,AML1D Protein,Acute Myeloid Leukemia 1 Protein,Acute Myeloid Leukemia 1A Protein,Acute Myeloid Leukemia 1B Protein,Acute Myeloid Leukemia 1C Protein,Acute Myeloid Leukemia 1D Protein,Core-Binding Factor Alpha 2 Protein,Pebp2a2 Protein,Runt-Related Transcription Factor 1,Runx1 Protein,Core Binding Factor Alpha 2 Protein,Runt Related Transcription Factor 1

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